Linked Data
ClinVar Variation Id:
878860
ClinVar RCV Id:
RCV001105840
dbSNP Id:
rs1847078623
gnomAD v4:
10-71362197-A-G
MyVariant Identifiers:
chr10:g.73121954A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71362197A>G , CM000672.2:g.71362197A>G | GRCh38 |
| NC_000010.10:g.73121954A>G , CM000672.1:g.73121954A>G | GRCh37 |
| NC_000010.9:g.72791960A>G | NCBI36 |
| NG_017066.1:g.47945A>G | |
| NG_017066.2:g.47939A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697843.1:n.2493A>G | ||
| ENST00000373189.6:c.1017A>G MANE Select | ENSP00000362285.5:p.Ser339= | |
| ENST00000479577.2:c.783A>G | ENSP00000493995.1:p.Ser261= | |
| ENST00000642198.1:c.*589A>G | ENSP00000494827.1:n.*589A>G | |
| ENST00000642772.1:c.*94+5954A>G | ENSP00000495041.1:n.*94+5954A>G | |
| ENST00000643042.1:c.638A>G | ENSP00000496674.1:n.638A>G | |
| ENST00000643619.1:c.*600A>G | ENSP00000494378.1:n.*600A>G | |
| ENST00000643752.1:c.*343A>G | ENSP00000495000.1:n.*343A>G | |
| ENST00000644088.1:c.*338A>G | ENSP00000494066.1:n.*338A>G | |
| ENST00000644591.1:c.*343A>G | ENSP00000496664.1:n.*343A>G | |
| ENST00000644895.1:c.*99+5954A>G | ENSP00000493872.1:n.*99+5954A>G | |
| ENST00000645345.1:c.*589A>G | ENSP00000495859.1:n.*589A>G | |
| ENST00000647524.1:c.*600A>G | ENSP00000495077.1:n.*600A>G | |
| ENST00000373189.5:c.1017A>G | ENSP00000362285.5:p.Ser339= | |
| ENST00000469204.1:n.514A>G | ||
| NM_001174098.1:c.*246A>G | NP_001167569.1:n.*246A>G | |
| NM_018344.5:c.1017A>G | NP_060814.4:p.Ser339= | |
| NR_033413.1:n.991A>G | ||
| NR_033414.1:n.764A>G | ||
| XM_006717910.2:c.783A>G | XP_006717973.1:p.Ser261= | |
| NM_001363518.1:c.783A>G | NP_001350447.1:p.Ser261= | |
| XM_017016377.2:c.579A>G | XP_016871866.1:p.Ser193= | |
| XM_017016378.2:c.399A>G | XP_016871867.1:p.Ser133= | |
| NM_018344.6:c.1017A>G MANE Select | NP_060814.4:p.Ser339= | |
| NM_001174098.2:c.*246A>G | NP_001167569.1:n.*246A>G | |
| NM_001363518.2:c.783A>G | NP_001350447.1:p.Ser261= | |
| NR_033413.2:n.985A>G | ||
| NR_033414.2:n.758A>G |